Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype

April 2008 in “ Clinical Genetics ”

Limor Avrahami, Saskia M. Maas, Metsada Pasmanik‐Chor, Limor Rainshtein, Nurit Magal, JHS Smitt, Jan van Marle, M Shohat, Lina Basel‐Vanagaite

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Research cited in this study

3 / 3 results

research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice

101 citations , October 2007 in “Journal of Biological Chemistry”

research Matriptase: Potent Proteolysis on the Cell Surface

165 citations , January 2006 in “Molecular Medicine”

Matriptase is crucial for skin, hair, and immune cell health, and its imbalance can lead to cancer.

research Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis

324 citations , May 2002 in “Oncogene”

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research Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities

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research Inherited Ichthyosis: Syndromic Forms

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research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing

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research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype

55 citations , April 2008 in “Clinical Genetics”